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Article

A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.

JAMA dermatology - 1 Sept 2014

Wee Jamie S, Mortimer Peter S, Lindhurst Marjorie J, Chong Heung, Biesecker Leslie G, Holden Colin A

Abstract excerpt

IMPORTANCE: Proteus syndrome is an extremely rare disorder of mosaic postnatal overgrowth affecting multiple tissues including bone, soft tissue, and skin. It typically manifests in early childhood with asymmetric and progressive skeletal overgrowth that leads to severe distortion of the skeleton and disability. The genetic basis has recently been identified as a somatic activating mutation in the AKT1 gene,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Proto-Oncogene Proteins c-akt

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Source

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Identifiers

PMID: 24850616
DOI: 10.1001/jamadermatol.2013.10368
PMCID: PMC4281031

Genes

AKT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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